Annotation Detail
Information
- Associated Genes
- GEN1
- Associated Variants
-
GEN1 p.Cys537Arg (p.C537R)
(
ENST00000381254.7,
ENST00000402989.5,
ENST00000317402.11 )
GEN1 p.Cys537Arg (p.C537R) ( ENST00000402989.5, ENST00000317402.11, ENST00000381254.7 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001130009.3(GEN1):c.1609T>C (p.Cys537Arg) AND not specified
- ClinVar Allele ID
- 1441049
- ClinVar RefSeq Alternation Syntax
- NM_182625.5:c.1609T>C
- ClinVar RefSeq Alternation Syntax
- NM_001130009.3:c.1609T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004041800
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs